Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8‐year long observational study from a tertiary care university hospital

2020 ◽  
Author(s):  
Maddalena Santirocco ◽  
Alberto Plaja ◽  
Carlota Rodó ◽  
Irene Valenzuela ◽  
Silvia Arévalo ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Observational Study ◽  
Microarray Analysis ◽  
Tertiary Care ◽  
University Hospital ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Central Nervous System Anomalies

scholarly journals Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Lijuan Sun ◽  
Qingqing Wu ◽  
Shi-Wen Jiang ◽  
Yani Yan ◽  
Xin Wang ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Significant Difference ◽  
Pathogenic Cnvs ◽  
Cns Malformations ◽  
Cns Anomalies

The aims of this study were to evaluate the contribution of chromosomal microarray analysis (CMA) in the prenatal diagnosis of fetuses with central nervous system (CNS) anomalies but normal chromosomal karyotype. A total of 46 fetuses with CNS anomalies with or without other ultrasound anomalies but normal karyotypes were evaluated by array-based comparative genomic hybridisation (aCGH) or single-nucleotide polymorphism (SNP) array. The result showed that CNVs were detected in 17 (37.0%) fetuses. Of these, CNVs identified in 5 (5/46, 10.9%) fetuses were considered to be likely pathogenic, and CNVs detected in 3 (3/46, 6.5%) fetuses were defined as being of uncertain clinical significance. Fetuses with CNS malformations plus other ultrasound anomalies had a higher rate of pathogenic CNVs than those with isolated CNS anomalies (13.6% versus 8.3%), but there was no significant difference (Fisher’s exact test,P>0.05). Pathogenic CNVs were detected most frequently in fetuses with Dandy-Walker syndrome (2/6, 33.3%) when compared with other types of neural malformations, and holoprosencephaly (2/7, 28.6%) ranked the second. CMA is valuable in prenatal genetic diagnosis of fetuses with CNS anomalies. It should be considered as part of prenatal diagnosis in fetuses with CNS malformations and normal karyotypes.

scholarly journals The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations

2020 ◽  
Vol 14 (4) ◽  
pp. 449-456
Author(s):  
J. K. Kievskaya ◽  
I. V. Kanivets ◽  
E. V. Kudryavtseva ◽  
D. V. Pyankov ◽  
S. A. Korostelev
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Microarray Analysis ◽  
Congenital Malformations ◽  
Copy Number Variations ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome Microarray Analysis ◽  
Pathogenic Cnvs ◽  
Chromosome Microarray

Introduction. The prevalence of congenital malformations (CMFs) in fetal central nervous system (CNS) ranges from 1.5 to 3 % and covers around 29 % among all malformations, whereas percentage in the structure of perinatal and infant mortality reaches 25–26 %.Aim: to estimate frequency of pathogenic copy number variations (CNVs) in fetuses with congenital malformations of CNS and normal karyotyping cytogenetic analysis.Materials and Methods. There were enrolled 42 pregnant women underwent invasive prenatal diagnostics in 2013–2019 due to ultrasound detection of congenital CNS defect in fetus. Fetal samples were studied by using chromosome microarray analysis (CMA).Results. Various pathogenic CNVs were detected in 7 (16.6 %) fetuses with prenatally diagnosed congenital CNS malformations. Non-syndrome pathogenic CNVs were detected in 85.7 %.Conclusion. Thus, performing chromosome microarray analysis as the first-line assay allows to diagnose not only aneuploidy, but also microdeletion/microduplication, the size of which below resolution threshold for standard cytogenetic karyotyping

scholarly journals Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Jianling Ji ◽  
Kristiyana Kaneva ◽  
Matthew C Hiemenz ◽  
Girish Dhall ◽  
Tom Belle Davidson ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Utility ◽  
Adolescent And Young Adult ◽  
Cns Tumors ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Genomic Profiling ◽  
Comprehensive Genomic Profiling ◽  
Clinically Significant

Abstract Background Recent large-scale genomic studies have revealed a spectrum of genetic variants associated with specific subtypes of central nervous system (CNS) tumors. The aim of this study was to determine the clinical utility of comprehensive genomic profiling of pediatric, adolescent and young adult (AYA) CNS tumors in a prospective setting, including detection of DNA sequence variants, gene fusions, copy number alterations (CNAs), and loss of heterozygosity. Methods OncoKids, a comprehensive DNA- and RNA-based next-generation sequencing (NGS) panel, in conjunction with chromosomal microarray analysis (CMA) was employed to detect diagnostic, prognostic, and therapeutic markers. NGS was performed on 222 specimens from 212 patients. Clinical CMA data were analyzed in parallel for 66% (146/222) of cases. Results NGS demonstrated clinically significant alterations in 66% (147/222) of cases. Diagnostic markers were identified in 62% (138/222) of cases. Prognostic information and targetable genomic alterations were identified in 22% (49/222) and 18% (41/222) of cases, respectively. Diagnostic or prognostic CNAs were revealed by CMA in 69% (101/146) of cases. Importantly, clinically significant CNAs were detected in 57% (34/60) of cases with noncontributory NGS results. Germline cancer predisposition testing was indicated for 27% (57/212) of patients. Follow-up germline testing was performed for 20 patients which confirmed a germline pathogenic/likely pathogenic variant in 9 cases: TP53 (2), NF1 (2), SMARCB1 (1), NF2 (1), MSH6 (1), PMS2 (1), and a patient with 47,XXY Klinefelter syndrome. Conclusions Our results demonstrate the significant clinical utility of integrating genomic profiling into routine clinical testing for pediatric and AYA patients with CNS tumors.

Fetal Central Nervous System Anomalies According to RT-PCR and Trimester of Maternal Infection with ZIKV. A Prospective Study

2020 ◽  
Author(s):  
Luz Ángela Gutiérrez-Sánchez ◽  
Carlos Hernán Becerra-Mojica ◽  
Mario Augusto Rojas ◽  
Luis Alfonso Díaz-Martínez ◽  
Luis Alfonso Pérez-Vera ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Prospective Study ◽  
Maternal Infection ◽  
Rt Pcr ◽  
A Prospective Study ◽  
Central Nervous System Anomalies

scholarly journals GCT-10. CAN HIGH LEVEL SERUM hCG-β BE CONSIDERED EQUIVALENT TO A DIAGNOSIS OF CHORIOCARCINOMA IN PRIMARY CENTRAL NERVOUS SYSTEM GERM-CELL TUMOR?

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii329-iii330
Author(s):  
Hiroaki Motegi ◽  
Shigeru Yamaguchi ◽  
Yukitomo Ishi ◽  
Michinari Okamoto ◽  
Akihiro Iguchi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Good Prognosis ◽  
Cell Tumor ◽  
University Hospital ◽  
Kaplan Meier ◽  
Beta Human Chorionic Gonadotropin ◽  
High Level

Abstract BACKGROUND Primary central nervous system(CNS) choriocarcinoma(CC) is very rare and has the poorest prognosis among germ cell tumor (GCT). CC usually has extremely high level (HL) of serum beta-human chorionic gonadotropin (bhCG) over than 1,000 mIU/ml. Some studies assign HL bhCG cases to poor prognosis group even without biopsy. The purpose of this study was to find out if there was a good prognosis subset in the HL bh group. MATERIALS AND METHODS We analyzed 103 cases diagnosed with GCT from 1998 to 2019 in Hokkaido University Hospital and reviewed the literature of CNS CC and bhCG. Survival was assessed using Kaplan-Meier method and log-rank statistics between the group with CC component and that with no CC component but HL bhCG. RESULTS One out of 103 our cases was diagnosed as a mixed GCT with CC component and did not respond to treatment and died 9 months later. Two cases were treated as CC because of HL bhCG (1,226 and 2,739 mIU/ml) despite that the biopsy showed only germinomas and survived(105 and 37 months), that is, no CC component. Combining our cases with 69 cases in the literature, all 7 cases with no CC component but HL bhCG survived but the median survival of the other 65 cases with CC component was 38.2 months (P=0.02). CONCLUSION This study has a limitation of selection bias, however, it suggests that patients with no CC component but HL bhCG may have a better prognosis.

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